ClinVar Miner

List of variants in gene TP53 reported as pathogenic for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001276697.2(TP53):c.-3_4dup (p.Ala2fs) rs863223301

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